This infection is one of the most common causes of death worldwide
Hearing loss affects many newborns around the world, which can then have a great impact in how the child develops. There are different types of hearing loss, as well as different causes.
Screening can involve tests called auditory brainstem response (also called ABR or BAER), and otoacoustic emissions (also called OAE).
Some newborns are also screened for SCID. These disorders are caused by deficiency in immune cells (T-cells) and mutations in different genes, which can affect a baby’s immunity.
New Zealand and some regions of Australia have been screening for CF since the early 1980s. Nowadays, many European countries, as well as some US states and Canadian provinces, do so as well.
Some of these disorders cause ammonia to build up in the blood, which is toxic. For this reason, some newborns are screened for them.
Newborn screening has been proven to be efficient and indeed a preventative measure that has saved many children’s lives. Though like with other areas of medicine, false positives are always a possibility. In which case, further tests are usually conducted.
Sources: (Children’s Hospital of Philadelphia) (March of Dimes) (Institute of Human Genetics)
Critical congenital heart defects (CCHD) can affect newborns, so a pulse oximetry test is done to check the oxygen levels in the blood in the first instance. Not all heart conditions are detected by this test, however.
Examples of disorders include 3-methylcrotonyl-CoA carboxylase deficiency (3MCC), propionic acidemia (PROP), and glutaric acidemia type 1 (GA1), among others.
Examples include S,S disease (sickle cell anemia) (Hb SS), S, beta-thalassemia (Hb S/ßTh), and S, C disease (Hb S/C).
Babies with these disorders are unable to break down food properly, leading to organic acids building up in the body, mostly amino acids such as lysine and tryptophan, to name a few.
These disorders affect our endocrine system, more specifically the glands that produce hormones. The malfunction of these glands can lead to development and growth problems.
Endocrine disorders include primary congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH).
Screening for DMD has been included in many newborn screening programs around the world. The condition causes muscle degeneration and weakness.
These conditions occur when the baby is unable to process certain amino acids. Amino acids are the building blocks of protein.
Newborn screening can include screening for fatty acid oxidation disorders, amino acid metabolism disorders, organic acid metabolism disorders, endocrine disorders, hemoglobin disorders, congenital heart defects, urea cycle disorders, and hearing loss, among others.
Disorders include PKU, homocystinuria, tyrosinemia, non-ketotic hyperglycinemia, and the aforementioned maple syrup urine disease.
In healthy individuals, fatty acids are broken down by the body and converted to energy. But some disorders affect this process.
In the 1970s, congenital hypothyroidism, which is a thyroid hormone deficiency, was added to the newborn screening program. This condition can lead to mental development issues and affect growth.
Newborns with PKU are unable to metabolize a protein called phenylalanine. If left untreated, it may result in intellectual disability.
Over the years, many other tests were added, including the screening for maple syrup urine disease (when the the body cannot process certain amino acids) and classic galactosemia (which can result in feeding difficulties and severe liver disease), as well as numerous congenital metabolic diseases.
Like today, the test involved blood taken from a newborn’s heel to be placed on a specific filter paper. The sample is usually taken within 24-48 hours after the baby is born.
These include medium-chain acyl-CoA dehydrogenase deficiency (MCAD), and trifunctional protein deficiency (TFP).
Newborn screening programs around the world are all different. Some countries screen for numerous conditions, while others only test for as little as one or two conditions.
American microbiologist Robert Guthrie was a pioneer in the early screenings for PKU. Shortly afterwards, the test was part of the public health program in the United States (and was later adopted by other nations).
The roots of the program go back to the 1960s, when screening for an amino acid disorder called phenylketonuria (PKU) began.
We have mentioned a few conditions that newborns are screened for, namely PKU. Now, let’s look at some other tests that are also run, albeit not universally.
Hemoglobin disorders, or hemoglobinopathies, are disorders that affect red blood cells. These are the cells responsible for transporting oxygen in the blood.
Newborn screening is the name given to a public health program adopted by numerous countries across the world. The aim of the program is to screen newborns for a number of medical conditions.
In this gallery, we delve into the history of newborn screening, its developments, and some of the common disorders newborns are screened for. Click on to learn more.
How newborn screening saves lives
From the 1960s until today
HEALTH Children
Many of us are familiar with the newborn blood spot screening test. This screening test has been performed since the 1960s in the US to detect a disorder called phenylketonuria (also known as PKU). Today, many countries have adopted their own newborn screening programs; some test for a number of conditions, while others keep the list much shorter. Regardless of the approach, newborn screening has saved many lives and continues to do so today.
In this gallery, we delve into the history of newborn screening, its developments, and some of the common disorders newborns are screened for. Click on to learn more.